SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation

International Journal of Andrology

Volumn 34, Issue 6 PART 2, 2011, Pages

  Fernandez Cancio M ^a   Audi L ^a   Andaluz, P ^a   Toran N ^b   Piro C ^b   Albisu, M ^a   Gussinye M ^a   Yeste, D ^a   Clemente, M ^a   Martinez Mora J ^c   Blanco, A ^c   Granada, M L ^c   Marco, M ^d   Ferragut, J ^e   Lopez Siguero J P ^f   Beneyto, M ^g   Carles, C ^g   Carrascosa, A ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^d HOSPITAL CENTRAL DE LA DEFENSA GÓMEZ ULLA   (Spain)

^e HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^f HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^g HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

46,XY DSD; 5 reductase enzyme deficiency; 5 reductase enzyme type 2; Mutations; SRD5A2 gene

Indexed keywords

ANDROGEN RECEPTOR; STEROID 5ALPHA REDUCTASE 2;

ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MUTATION RATE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER; SPAIN; TESTIS;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; BASE SEQUENCE; DISORDERS OF SEX DEVELOPMENT; DNA PRIMERS; HUMANS; MEMBRANE PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SPAIN;

EID: 81455135440     PISSN: 01056263     EISSN: 13652605     Source Type: Journal    
DOI: 10.1111/j.1365-2605.2010.01136.x     Document Type: Article

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